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NM_206933.4(USH2A):c.7493del (p.Ser2498fs) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 26, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000670253.1

Allele description [Variation Report for NM_206933.4(USH2A):c.7493del (p.Ser2498fs)]

NM_206933.4(USH2A):c.7493del (p.Ser2498fs)

Gene:
USH2A:usherin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q41
Genomic location:
Preferred name:
NM_206933.4(USH2A):c.7493del (p.Ser2498fs)
HGVS:
  • NC_000001.11:g.215900176del
  • NG_009497.2:g.528273del
  • NM_206933.4:c.7493delMANE SELECT
  • NP_996816.3:p.Ser2498fs
  • NC_000001.10:g.216073518del
  • NG_009497.1:g.528221del
  • NM_206933.2:c.7493_7493delG
  • NM_206933.2:c.7493del
  • NM_206933.2:c.7493delG
Protein change:
S2498fs
Links:
dbSNP: rs1553274448
NCBI 1000 Genomes Browser:
rs1553274448
Molecular consequence:
  • NM_206933.4:c.7493del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Usher syndrome type 2A
Synonyms:
USHER SYNDROME, TYPE IIA; RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF
Identifiers:
MONDO: MONDO:0010169; MedGen: C1848634; Orphanet: 231178; Orphanet: 886; OMIM: 276901
Name:
Retinitis pigmentosa 39 (RP39)
Identifiers:
MONDO: MONDO:0013436; MedGen: C3151138; Orphanet: 791; OMIM: 613809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000795086Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Likely pathogenic
(Oct 26, 2017)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. doi: 10.1167/iovs.08-2009. Epub 2008 Jul 18.

PubMed [citation]
PMID:
18641288
PMCID:
PMC2588642

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL.

J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27.

PubMed [citation]
PMID:
20507924
PMCID:
PMC3070405

Details of each submission

From Counsyl, SCV000795086.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024